{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T17:58:14Z","timestamp":1776621494338,"version":"3.51.2"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T00:00:00Z","timestamp":1347321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The advent of whole\u2010exome next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> has remained relatively unexplored. We describe our exploration of <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> as a diagnostic tool in a 3\u00bd\u2010year old female patient with a 2\u2010year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work\u2010up. <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> was performed on the proband and her two parents. Parental exome data was used to filter potential <jats:italic>de novo<\/jats:italic> genomic events in the proband and suspected variants were confirmed using di\u2010deoxy sequencing. <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> revealed a <jats:italic>de novo<\/jats:italic> non\u2010synonymous mutation in exon 21 of the calcium channel gene <jats:italic><jats:styled-content style=\"fixed-case\">CACNA1S<\/jats:styled-content><\/jats:italic> that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01951.x","type":"journal-article","created":{"date-parts":[[2012,8,17]],"date-time":"2012-08-17T15:41:05Z","timestamp":1345218065000},"page":"457-461","source":"Crossref","is-referenced-by-count":27,"title":["Exploring the utility of whole\u2010exome sequencing as a diagnostic tool in a child with\u00a0atypical episodic muscle weakness"],"prefix":"10.1111","volume":"83","author":[{"given":"NA","family":"Hanchard","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DR","family":"Murdock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PL","family":"Magoulas","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Bainbridge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YQ","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AL","family":"McGuire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JR","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Texas Children's Hospital  Houston TX USA"},{"name":"Department of Pediatrics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"RA","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CW","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Texas Children's Hospital  Houston TX USA"},{"name":"Department of Pediatrics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq333"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0908094"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318227e53c"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34165"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182088158"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3002243"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-051010-162644"},{"key":"e_1_2_6_10_1","volume-title":"Hypokalemic Periodic Paralysis. 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